Ads
related to: chromosome 4 huntington's disease- Affected By HD Chorea?
Share Your Story To Offer Support
For Caregivers & The Community.
- Recent HD Diagnosis?
Learn About HD Chorea Symptoms &
Educate Yourself For Your Journey.
- Sign Up For HD Info
Receive Information About HD Chorea
From The More Than HD Community.
- Patient Resources
Download Brochures & Guides To Help
Start A Convo About HD Chorea.
- Affected By HD Chorea?
Search results
Results from the WOW.Com Content Network
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease [7] that is mostly inherited. [8] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. [9] [1] A general lack of coordination and an unsteady gait often follow. [2]
However, in individuals affected by Huntington's disease (an autosomal dominant genetic disorder), the polymorphic locus contains more than 36 glutamine residues (highest reported repeat length is about 250). [7] Its commonly used name is derived from this disease; previously, the IT15 label was commonly used.
The chromosome is ~193 megabases in length. In a 2012 paper, 775 protein-encoding genes were identified on this chromosome. [4] 211 (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. 271 appear to be membrane proteins. 54 have been classified as cancer-associated proteins.
The genetic mutation linked to Huntington's has long been known, but scientists haven't understood how people could have the mutation from birth, but not develop any problems until later in life. New research shows that the mutation is, surprisingly, harmless for decades.
These often are translated into polyglutamine-containing proteins that form inclusions and are toxic to neuronal cells. Examples of the disorders caused by this mechanism include Huntington's disease and Huntington disease-like 2, spinal-bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia 1–3, 6–8, and 17.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Ads
related to: chromosome 4 huntington's disease